Don't know what to do, please help!

This may be a bit off topic to go in aibu, however if mods can think of a better place, feel free to move it there.My husband and I are both classified as severely disabled-although to be fair neither of us view ourselves as having disabilities and we do our best to live our lives to the full.I have bipolar and my husband has a very severe form of a genetic blindness called retinitis pigmentosa or rp. Rp normally causes blindness in the late teens or early twenties but my husbands form is so bad he was registered blind at 10 months and now has no vision.As rp is hereditary any children we have get a 50/50 chance of the disease. We already have one son who at 19 months is showing no signs of visual impairment and the doctors say it is now very unlikely he has the faulty gene.Only problem is husband now wants child number 2. I don't. It is not just the risk of blindness. It is the fact I would have a 30% chance of a bipolar relapse and at 37 I feel too old. Also I run a business and work 90 hour weeks-it is a labour of love and the reality is if I had a child I would have to leave home and go live in my office for 3 months or so as a baby would slow me down (and yes I know may people may think that is a disgrace but I am a workaholic).I cannot have an abortion or IVF with prenatal diagnosis for religious reasons.What should I do?

Thats really interesting Emmon. Thank you. The reason I asked is because my dh also has RP, as do two of his sisters. His third sister has normal sight, the one that had the tests done. Their parents were cousins, and I assumed they both carried the faulty gene which made the risk higher, Dh and I have two children, male and female, no sight issues. We went ahead and had children without testing, because we knew we could deal with it either way. But I have no idea whether ours is dominent or recessive. I would assume then that it would be dominent because of the family tree, and because dh is male? Sorry, I'm derailing your thread. Tell me to bugger off if you want to

As females in the family have got the disorder it cannot be sex linked. That leaves autosomal recessive (AR) and autosomal dominant(AD). Whether or not an illness is AR or AD depends on what the faulty gene actually does. Every gene in our body (other than those on the sex chromosomes) exists in a pair-one of the pair is from mum and one from dad. What is meant by AR is BOTH the pair have to be faulty to cause the illness. With AD only one of the pair needs the fault for someone to get ill.

A good example of AR is cystic fibrosis. The faulty gene codes for a salt transporting protein which fails to work resulting in very salty sweat and sticky mucus which bungs up the lungs causing breathing problems. In this situation if only one of the pair of genes (alleles) is faulty the person is OK as the other gene makes the salt transporters. It is only when both genes are faulty and none of these salt transporters get made that the illness results.

With AD diseases one copy of the faulty gene normally produces a protein which disrupts cell structure or function. The presence of one healthy copy does not stop the illness occurring.

Obviously all relatives share genes. This goes beyond just the basics such as hair and eye colour. In fact a lot of our behviour and temperament is geneticlally determined (although environment clearly also contributes here). First degree relatives are parents/children and brothers/sisters. We share 50% of genes with our first degree relatives. Second degree relatives are our aunties and uncles. We share 25% genetic material with them. Cousins are third degree relatives. They share 12.5% (or one -eighth) of genes.

When cousins have children this can cause problems. As they share genes they are likely to share autosomal recessive defects. Both the related parents will not be unwell as they only have one copy of the defective gene each. However when they have children there is a 1 in 4 chance that a child will get both bad copies and be unwell. Unfortunately in your husbands family there has been some bad luck as 3 out of 4 children have inherited both copies of the faulty gene when statistically only one out of 4 should have got it. Your husband will have 2 bad copies of the gene.

As you and your husband are not blood related, and as you have no history of blindness in your biological relatives, the chances you happen to have exactly one copy of the same defective gene is very very small. Therefore with your children, 50% will have one copy of the bad gene and 50% will have no bad copies. However with an AR disease one copy of the faulty gene will not cause illness, but will make that child a carrier of the condition. So based on the statistics, half your children are carriers and half are totally unaffected.

The implications of this is that there is always a chance in the future that one of your children could have a child with RP if they have children with another carrier. Chances are this person will have a history of RP in the family. However even if they do have RP in the family this does not automatically mean there is a risk as there are over 100 genes which can cause RP. Everyone affected in the same family will have the same gene, but 2 different affected families usually have a different faulty gene.

So basically if you have more children it is highly unlikely they will have RP. With your children 50% have no increased risk of having children with the condition, but the other 50% being carriers need to be careful if they choose to have children with someone else who has RP in the family.

Thanks so much for taking the time out to write all that. I've learnt far more in the ten minutes reading that than, well I have in a life time. We did vaguely ask the consultant what the chances were when I was about 30 weeks pg with dd, but he couldn't really tell us. Your post had made things a lot clearer. Thanks again, I really appreciate it.

Emmon, going off topic here, but I found your explanation to TheChao fascinating. There's one thing I didn't understand, though. If TheChao's DH has two bad copies of the gene and TheChao probably has no bad copies, why is it that 50% of the children are likely to have no bad copies? Can't DH only pass on bad copies? Sorry if that's a really silly question, I find scientific ideas difficult to grasp.

As to your question, I think you've set out a very clear rationale for not having any more children, and in something like this where there's no possible compromise, your carefully reasoned desire not to should trump your husband's desire to have another child, so YANBU.

Why does your husband want another child? He's not especially interested in parenting the current child, it would clearly be immensely difficult for you and at the risk of your own health. Do you know what it is that outweighs all of that for him?

thecatactually you are right there...oops. yes all children will be carriers. doh!

although the ss were happy with my husband and felt no neglect was occurring i just feel he should do more for our son he sits watching tv a lot and our son just entertains himself, normally by putting his hands in the dogs water bowl. i have raised this with my husband but he has no insight into the fact this is not great parenting. i think a lot of it relates to the fact he was brought up like this, when MIL looks after him she just dumps a shed load of quavers on his high chair table and seems to think this is acceptable nutrition.

i guess i am just as guilty of being selfish as all i do is work, but at least i am bringing money into the family and if i stopped working we would have to exist on benefits. although i am a crap mum in the sense i am a workaholic at least i do provide materially for him.

there is a dads group at our local childrens ctr and a few times i have physically driven him and our son there and have picked them up later. i can understand he may not want to attend other sessions as it is nearly always mums who go to these groups.

on a positive note at least he is not beating or verbally abusing our son, but things could be a lot better and it drives me up the wall.

he has just let my son play on the front step and he has fallen and has blood all over his nose. this is the second week running this has happened. i am sick to the back bloomin teeth of this and cannot understand why he cannot look after my son responsibly.

Children that age do fall over a lot, but it doesn't sound like a very sensible place to play! If you're working 90 hours a week your DH is probably exhausted from being sole carer. Are you happy this way? Do you want to spend more time with your son?

My mum has RP and started to go blind at about 5 years old, and dad is registered blind. I think there may have been a great aunt with poor eyesight, but apart from that no one else in the family appears to have inherited RP. I have two children (adults) and a sibling has one child. Having children is a risk I was prepared to take and thankfully none of the grandchildren have RP. We took the risk because, having lived with it all my life, blindness wasn't a worst case scenario to me. My parents very sucessfully bought up three children of their own and my mum coped well. However I know she would love to see and it does cause some frustration.

My mil also has severe mental health issues and had this when I met my husband. There was always a slight chance that this was genetic too.

Fear could have stopped us having children and I'm so pleased that we made the decision we did and that the outcome was positive.

Having said all this, my nephew is an only child and he is a very happy, well adjusted child. Apart from the RP and bipolar you have perfectly vailid reasons for not wanting another child. Hope you can sort it out between you.

To complicate the genetic issue, my mum's grandparents were first cousins. I've sometimes wondered if that made her Rp more likely. We've never had genetic counselling, so don't understand it very well.

I think it sounds like you need to be a bit more involved. If you're home, why is it just about 'telling' your husband what time the toddler needs to be in bed? My toddler doesn't go to bed till 9, he sleeps till 8.30, it's what works for us as a family. Do you have any outside support from family/friends or a HV? It sounds like you're all struggling.

To be honest, you hardly sound fit to cope with the child you have never mind even consider another. So why are you finding it hard to say no? You could just go and have your tubes tied and forget about it.

Also I find the criticism of your husband's efforts when you are out working your 90h weeks and probably haven't a bloody clue what is going on to be pretty objectionable.

You poor thing, the child took your fanta? Your dh doesn't do jack? Well what the hell are YOU doing actually?

In fact this has really riled me. Putting your condition aside and just speaking about your parenting credentials. Yes I think you are a crap mum. Entirely selfish and quick to pass the parental buck onto your husband. He sounds worse than useless too. Why don't you turn your addictive personality onto your son? Why not be an addicted to doing the absolute best you can for him? Put his needs first which include both parents. You "told your husband to put him to bed" why not assign some of your 90 hours work time to do it your bloody self. Do not even consider having another child, illness or no illness. You are self centred and not even to able to provide basic care to the one you have. Goodness help him having to neglectful parents who use their conditions as an excuse. There are so many disabled people put there who would love to have your abilities yet do a better job with less. You really need to take a long hard look at yourself and do not even consider another child.